ArticleActa neuropathologica communications2018
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
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Article in Acta neuropathologica communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
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What it found
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Who cites it
20 citing papers in PubMed.
- Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Article
- Multiomics approach identifies SERPINB1 as candidate biomarker for spinocerebellar ataxia type 2.Scientific reports · 2025Article
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.Nature genetics · 2025Article
- Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles ofBrain communications · 2025Article
- Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.Nature reviews. Genetics · 2024Review
- Review
- Intermediate Repeat Expansion in theBiomedicines · 2024Article
- TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2.Molecular neurobiology · 2023Article
- Detection ofMovement disorders clinical practice · 2023Article
- Integration of multi-omics technologies for molecular diagnosis in ataxia patients.Frontiers in genetics · 2023Article
- Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.NPJ genomic medicine · 2022Article
- Exploring the phenotype of Italian patients with ALS with intermediateJournal of neurology, neurosurgery, and psychiatry · 2022Article
- Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences.Genome research · 2022Review
- Toxicity of pathogenic ataxin-2 in Drosophila shows dependence on a pure CAG repeat sequence.Human molecular genetics · 2021Article
- Ataxin-2 gene: a powerful modulator of neurological disorders.Current opinion in neurology · 2021Review
- Novel genetic variants associated with brain functional networks in 18,445 adults from the UK Biobank.Scientific reports · 2021Article
- A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72-ALS.Movement disorders : official journal of the Movement Disorder Society · 2021Article
- Intracellular dynamics of Ataxin-2 in the human brains with normal and frontotemporal lobar degeneration with TDP-43 inclusions.Acta neuropathologica communications · 2020Article
- Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.Frontiers in neuroscience · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Clémence FournierInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Vincent AnquetilInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Agnès CamuzatInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Sandrine Stirati-BuronDépartement de médecine gériatrique, Centre hospitalier Rives de Seine, Courbevoie, France.
Véronique SazdovitchLaboratoire de Neuropathologie Escourolle, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.
Laura Molina-PorcelNeurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Sabrina TurbantInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Daisy RinaldiInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Raquel Sánchez-ValleNeurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, Barcelona, Spain.
Mathieu BarbierInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Morwena LatoucheInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Neuro-CEB Neuropathology Network
Giovanni StevaninInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Danielle SeilheanInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Alexis BriceInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Charles DuyckaertsInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France.
Isabelle Le BerInstitut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris, France. Isabelle.leber@upmc.fr.
Funding
Agence Nationale de la Recherche ANR-10-IAIHU-06AP-HP FTLD-exomeFP7 Ideas: European Research Council NeurOmics
Abstract
PubMed holds no abstract for this paper.
Indexed as
AgedAged, 80 and overAmyotrophic Lateral SclerosisAtaxin-2BrainCohort StudiesDNA-Binding ProteinsFemaleFrontotemporal DementiaHumansMagnetic Resonance ImagingMaleMiddle AgedTomography, Emission-Computed, Single-PhotonTrinucleotide Repeat ExpansionAtaxin-2ATXN2 protein, humanDNA-Binding ProteinsTARDBP protein, humanAmyotrophic lateral sclerosisAtaxin 2C9orf72Corticobasal degenerationCorticobasal syndromeFrontotemporal dementiaFrontotemporal lobar degenerationGRNSCA2TDP-43
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.